Topology of <i>WFS1</i> Variants Linked With Islet Function and Higher Risk of Urological Symptoms in <i>WFS1</i>-Associated Disease.

ABSTRACT: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane (TM) structural protein (wolframin), is essential for several biological processes. Mutations of WFS1, autosomal dominant or recessive inherited, are related to a broad clinical spectrum. Molecular genetic tests were performed, and clinical phenotypes of three WFS1-associated cases were evaluated. The expression of WFS1, viability, and endoplasmic reticulum (ER) stress of the MIN6 cell and structural analysis of the variant WFS1 protein were revealed. Furthermore, a total of 75 pathogenic WFS1 variants from ClinVar were included to analyze variant-phenotype association. Genetic testing revealed 3 mutations with unclear pathogenicity in WFS1 of the 3 patients with early-onset diabetes, incl

SUBMITTER: Zhang JJ 

PROVIDER: S-EPMC12331406 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature